Keratoderma, Palmoplantar, with Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Name: Keratoderma, Palmoplantar, with Deafness ⁵⁷ ⁷⁵ ¹³

Palmoplantar Keratoderma with Deafness ²⁵ ³⁷ ⁷³

Keratoderma Palmoplantar Deafness ⁵³ ²⁹ ⁶

Palmoplantar Hyperkeratosis-Hearing Loss Syndrome ²⁵ ⁵⁹

Palmoplantar Keratoderma-Hearing Loss Syndrome ²⁵ ⁵⁹

Palmoplantar Hyperkeratosis-Deafness Syndrome ²⁵ ⁵⁹

Palmoplantar Keratoderma-Deafness Syndrome ²⁵ ⁵⁹

Ppk-Deafness Syndrome ²⁵ ⁵⁹

Focal Palmoplantar Keratoderma with Sensorineural Deafness ⁵³

Palmoplantar Keratoderma and Sensorineural Deafness ⁵³

Hereditary Palmoplantar Keratoderma with Deafness ⁵³

Diffuse Palmoplantar Keratoderma with Deafness ⁵³

Keratoderma Palmoplantar, with Deafness ⁵³

Keratoderma Palmoplantar, Deafness ⁴⁰

Ppk with Deafness ²⁵

Ppkdfn ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,

HPO:

³²

keratoderma, palmoplantar, with deafness:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 148350

Orphanet ⁵⁹ ORPHA2202

MESH via Orphanet ⁴⁵ C536152

UMLS via Orphanet ⁷⁴ C1835672

ICD10 via Orphanet ³⁴ Q82.8

MedGen ⁴² C1835672

MeSH ⁴⁴ D007645

KEGG ³⁷ H00716

SNOMED-CT via HPO ⁶⁹ 263681008 103276001 15188001 more

UMLS ⁷³ C1835672

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Summaries for Keratoderma, Palmoplantar, with Deafness

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2202Disease definitionPalmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma (see these terms). A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans (see these terms) may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma with deafness, is related to palmoplantar keratosis and nonsyndromic deafness. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Genetics Home Reference : ²⁵ Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.

UniProtKB/Swiss-Prot : ⁷⁵ Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

Description from OMIM: 148350

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Related Diseases for Keratoderma, Palmoplantar, with Deafness

Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	palmoplantar keratosis	10.0
2	nonsyndromic deafness	9.0	GJB2 MT-TS1

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Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
hearing loss, high frequency, slowly progressive (onset in early childhood)

Skin Nails Hair Skin:
palmoplantar hyperkeratosis

Clinical features from OMIM:

148350

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

⁵⁹ ³²

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	sensorineural hearing impairment ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000407
2	palmoplantar keratoderma ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000982
3	hyperkeratosis ⁵⁹		Very frequent (99-80%)
4	hearing impairment ³²			HP:0000365
5	palmoplantar hyperkeratosis ³²			HP:0000972

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Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

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Genetic Tests for Keratoderma, Palmoplantar, with Deafness

Genetic tests related to Keratoderma, Palmoplantar, with Deafness:

#	Genetic test	Affiliating Genes
1	Keratoderma Palmoplantar Deafness ²⁹	GJB2

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Anatomical Context for Keratoderma, Palmoplantar, with Deafness

MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:

⁴¹

Skin

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Publications for Keratoderma, Palmoplantar, with Deafness

Articles related to Keratoderma, Palmoplantar, with Deafness:

#	Title	Authors	Year
1	A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. ( 17993581 )	de Zwart-Storm E.A....van Steensel M.A.M.	2008
2	A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ( 18787097 )	de Zwart-Storm E.A....van Steensel M.A.	2008
3	The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ( 16059934 )	Feldmann D....Marlin S.	2005
4	Hereditary palmoplantar keratoderma with deafness. ( 8736341 )	Fitzgerald D.A....Verbov J.L.	1996
5	Diffuse palmoplantar keratoderma with deafness. ( 6213205 )	Hatamochi A....Iuchi I.	1982

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Genes for Keratoderma, Palmoplantar, with Deafness

Genes related to Keratoderma, Palmoplantar, with Deafness (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJB2	Gap Junction Protein Beta 2	Protein Coding	1703	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	10633135 12372058 16059934 (more) 15996214 10218527
2	MT-TS1	Mitochondrially Encoded TRNA Serine 1 (UCN)	RNA Gene	750	Pathogenic ⁶ Causative germline mutation ⁵⁹	7219534 7987332 8019558 (more) 6213205 9450881 8572257 127819 9742104 11069477 11175301

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Variations for Keratoderma, Palmoplantar, with Deafness

UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	GJB2	p.Arg75Trp	VAR_002140	rs104894402
2	GJB2	p.Asp66His	VAR_008710	rs104894403
3	GJB2	p.Gly59Ala	VAR_009965	rs104894404
4	GJB2	p.Arg75Gln	VAR_015936	rs28931593
5	GJB2	p.His73Arg	VAR_060799	rs121912968

ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

⁶

(show all 30)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MT-TS1	m.7445A> G	single nucleotide variant	Pathogenic	rs199474818	GRCh37	Chromosome MT, 7445: 7445
2	MT-TS1	m.7445A> G	single nucleotide variant	Pathogenic	rs199474818	GRCh38	Chromosome MT, 7445: 7445
3	GJB2	NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)	single nucleotide variant	Pathogenic	rs104894396	GRCh37	Chromosome 13, 20763650: 20763650
4	GJB2	NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)	single nucleotide variant	Pathogenic	rs104894396	GRCh38	Chromosome 13, 20189511: 20189511
5	GJB2	NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)	deletion	Pathogenic	rs80338939	GRCh37	Chromosome 13, 20763686: 20763686
6	GJB2	NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)	deletion	Pathogenic	rs80338939	GRCh38	Chromosome 13, 20189547: 20189547
7	GJB2	NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)	single nucleotide variant	Pathogenic	rs104894398	GRCh37	Chromosome 13, 20763582: 20763582
8	GJB2	NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)	single nucleotide variant	Pathogenic	rs104894398	GRCh38	Chromosome 13, 20189443: 20189443
9	GJB2	NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)	single nucleotide variant	Pathogenic	rs80338948	GRCh37	Chromosome 13, 20763294: 20763294
10	GJB2	NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)	single nucleotide variant	Pathogenic	rs80338948	GRCh38	Chromosome 13, 20189155: 20189155
11	GJB2	NM_004004.5(GJB2): c.176G> C (p.Gly59Ala)	single nucleotide variant	Pathogenic	rs104894404	GRCh38	Chromosome 13, 20189406: 20189406
12	GJB2	NM_004004.5(GJB2): c.176G> C (p.Gly59Ala)	single nucleotide variant	Pathogenic	rs104894404	GRCh37	Chromosome 13, 20763545: 20763545
13	GJB2	NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)	single nucleotide variant	Pathogenic	rs80338945	GRCh37	Chromosome 13, 20763452: 20763452
14	GJB2	NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)	single nucleotide variant	Pathogenic	rs80338945	GRCh38	Chromosome 13, 20189313: 20189313
15	GJB2	NM_004004.5(GJB2): c.224G> A (p.Arg75Gln)	single nucleotide variant	Pathogenic	rs28931593	GRCh37	Chromosome 13, 20763497: 20763497
16	GJB2	NM_004004.5(GJB2): c.224G> A (p.Arg75Gln)	single nucleotide variant	Pathogenic	rs28931593	GRCh38	Chromosome 13, 20189358: 20189358
17	GJB2	NM_004004.5(GJB2): c.218A> G (p.His73Arg)	single nucleotide variant	Pathogenic	rs121912968	GRCh37	Chromosome 13, 20763503: 20763503
18	GJB2	NM_004004.5(GJB2): c.218A> G (p.His73Arg)	single nucleotide variant	Pathogenic	rs121912968	GRCh38	Chromosome 13, 20189364: 20189364
19	GJB2	NM_004004.5(GJB2): c.283G> A (p.Val95Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111033299	GRCh37	Chromosome 13, 20763438: 20763438
20	GJB2	NM_004004.5(GJB2): c.283G> A (p.Val95Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111033299	GRCh38	Chromosome 13, 20189299: 20189299
21	GJB2	NM_004004.5(GJB2): c.416G> A (p.Ser139Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs76434661	GRCh37	Chromosome 13, 20763305: 20763305
22	GJB2	NM_004004.5(GJB2): c.416G> A (p.Ser139Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs76434661	GRCh38	Chromosome 13, 20189166: 20189166
23	GJB2	NM_004004.5(GJB2): c.617A> G (p.Asn206Ser)	single nucleotide variant	Pathogenic	rs111033294	GRCh37	Chromosome 13, 20763104: 20763104
24	GJB2	NM_004004.5(GJB2): c.617A> G (p.Asn206Ser)	single nucleotide variant	Pathogenic	rs111033294	GRCh38	Chromosome 13, 20188965: 20188965
25	GJB2	NM_004004.5(GJB2): c.131G> A (p.Trp44Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894413	GRCh38	Chromosome 13, 20189451: 20189451
26	GJB2	NM_004004.5(GJB2): c.131G> A (p.Trp44Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894413	GRCh37	Chromosome 13, 20763590: 20763590
27	GJB2	NM_004004.5(GJB2): c.66G> T (p.Lys22Asn)	single nucleotide variant	Pathogenic	rs879253741	GRCh38	Chromosome 13, 20189516: 20189516
28	GJB2	NM_004004.5(GJB2): c.66G> T (p.Lys22Asn)	single nucleotide variant	Pathogenic	rs879253741	GRCh37	Chromosome 13, 20763655: 20763655
29	GJB2	NM_004004.5(GJB2): c.175G> C (p.Gly59Arg)	single nucleotide variant	Pathogenic	rs104894410	GRCh38	Chromosome 13, 20189407: 20189407
30	GJB2	NM_004004.5(GJB2): c.175G> C (p.Gly59Arg)	single nucleotide variant	Pathogenic	rs104894410	GRCh37	Chromosome 13, 20763546: 20763546

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Expression for Keratoderma, Palmoplantar, with Deafness

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.

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Pathways for Keratoderma, Palmoplantar, with Deafness

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GO Terms for Keratoderma, Palmoplantar, with Deafness

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